A $172,480 grant from the National Institute on Aging, an NIH subsidiary, will allow graduate research assistant Sarah Neuner to identify genes that may influence a person’s likelihood for developing late-onset Alzheimer’s disease.

Although gene mutations that cause early onset Alzheimer’s disease have been identified, the vast majority of cases result from what is known as “sporadic,” or late-onset Alzheimer’s disease (LOAD), which has no known cause. Sarah Neuner’s research focuses on identifying currently unknown genes that influence a person’s likelihood of developing LOAD.

Neuner, a graduate research assistant in the lab of Catherine Kaczorowski, PhD, in the Department of Anatomy and Neurobiology, College of Medicine at the University of Tennessee Health Science Center (UTHSC), has received a grant totaling $172,480 from the National Institute on Aging, a subsidiary of the National Institutes of Health. The award will be used to support a project titled, “Identification of Genetic Modifiers of Neuronal Deficits and Memory Failure in Alzheimer’s Disease.” The award will be distributed over four years.

Identifying those genes that modify susceptibility to LOAD in human studies has proven challenging, in part due to large genomic variability in individuals. In contrast, animal studies suffer from the opposite problem – too little genetic diversity, as most traditional studies utilize one inbred Alzheimer’s disease (AD) mouse model. Therefore, Neuner and her collaborators have developed a new panel of AD mice that model some of the genetic complexity of human populations, which is thought to contribute to the “sporadic” nature of the disease. In this project, the research team will measure memory function as well as clinically relevant markers of AD in this panel throughout their lifespan in order to determine which strains are more or less prone to developing AD. Results from these tests will be used to pinpoint the region or regions in the genome that contain genes influencing the susceptibility and/or resistance of an individual strain to AD. Once these genes have been identified, gene therapy tools will be used to prevent or reverse AD-related memory deficits. Research outcomes, combined with insight from analysis of available human datasets, will allow researchers to prioritize candidates with the best potential to translate into treatments for use in human populations.

If successful, this research may uncover new therapeutic targets that can be used to delay, prevent, or cure Alzheimer’s disease in humans. They may also be useful as “biomarkers” to identify individuals who are at high risk, enabling earlier detection and treatment, which would ultimately result in better outcomes for both patients and their families.

“I am extremely fortunate and thankful to have received a Ruth L. Kirschstein National Research Service Award from the National Institute on Aging, which will provide support for my doctoral training over the next four years,” said Neuner. “My mentor, Dr. Catherine Kaczorowski, and the co-sponsor of this award, Dr. Rob Williams, will provide training on research design, ethics, grantsmanship, and additional career development opportunities that are essential for progressing towards a career as an independent scientist. Working closely with Drs. Kaczorowski and Williams in the development of this project has allowed me to learn from experts in the three fields I am very interested in – aging, Alzheimer’s disease and genetics – and combine the two in new ways. This award is especially important to me because it will help me achieve my goal of making significant contributions to the field of Alzheimer’s disease genetics and to the understanding of the mechanisms causing this disease.”

The National Institute on Aging remains committed to understanding the aging process and prolonging life. It is the primary agency that supports and conducts Alzheimer’s research. For more information, visit www.nia.nih.gov.

The National Institutes of Health (NIH), the nation’s medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.